Association study of the IL18RAP locus in three European populations with coeliac disease

Human Molecular Genetics

Volumn 18, Issue 6, 2009, Pages 1148-1155

  Koskinen, Lotta L E ^a   Einarsdottir, Elisabet ^a   Dukes, Emma ^a   Heap, Graham A R ^b   Dubois, Patrick ^b   Korponay Szabo, Ilma R ^c,d   Kaukinen, Katri ^e   Kurppa, Kalle ^e   Ziberna, Fabiana ^f   Vatta, Serena ^f   Not, Tarcisio ^f   Ventura, Alessandro ^f   Sistonen, Pertti ^g   Ádány, Róza ^h   Pocsai, Zsuzsa ^h   Széles, György ^h   Mäki, Markku ^e   Kere, Juha ^a,i   Wijmenga, Cisca ^j   Van Heel, David A ^b   Saavalainen, Päivi ^a   more..

^a UNIVERSITY OF HELSINKI   (Finland)

^b QUEEN MARY UNIVERSITY OF LONDON   (United Kingdom)

^c HEIM PÁL CHILDREN S HOSPITAL   (Hungary)

^d UNIVERSITY OF DEBRECEN   (Hungary)

^e UNIVERSITY OF TAMPERE MEDICAL SCHOOL   (Finland)

^f UNIVERSITY OF TRIESTE   (Italy)

^g FINNISH RED CROSS BLOOD SERVICE   (Finland)

^h UNIVERSITY OF DEBRECEN   (Hungary)

ⁱ KAROLINSKA INSTITUTE   (Sweden)

^j UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

more..

Author keywords

[No Author keywords available]

Indexed keywords

INTERLEUKIN 18 RECEPTOR; INTERLEUKIN 18 RECEPTOR ACESSORY PROTEIN; ISOPROTEIN; UNCLASSIFIED DRUG;

ARTICLE; CELIAC DISEASE; CONTROLLED STUDY; FEMALE; FINLAND; GENE FREQUENCY; GENE LOCUS; GENETIC ASSOCIATION; GENETIC LINKAGE; GENETIC PREDISPOSITION; GENETIC RISK; GENETIC VARIABILITY; GEOGRAPHIC DISTRIBUTION; HAPLOTYPE; HUMAN; HUMAN TISSUE; HUNGARY; IMMUNOHISTOCHEMISTRY; INTESTINE BIOPSY; ITALY; MAJOR CLINICAL STUDY; MALE; POPULATION RISK; PRIORITY JOURNAL; PROTEIN EXPRESSION; WESTERN BLOTTING;

BLOTTING, WESTERN; CELIAC DISEASE; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INTERLEUKIN-18 RECEPTOR BETA SUBUNIT; INTESTINE, SMALL; LEUKOCYTES; MALE; META-ANALYSIS AS TOPIC;

EID: 61849085397     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddn438     Document Type: Article

References (31)

1. Lohi, S., Mustalahti, K., Kaukinen, K., Laurila, K., Collin, P., Rissanen, H., Lohi, O., Bravi, E., Gasparin, M., Reunanen, A. et al. (2007) Increasing prevalence of coeliac disease over time. Aliment. Pharmacol. Ther., 26, 1217-1225.
2. Molberg, O., Mcadam, S.N., Korner, R., Quarsten, H., Kristiansen, C., Madsen, L., Fugger, L., Scott, H., Noren, O., Roepstorff, P. et al. (1998) Tissue transglutaminase selectively modifies gliadin peptides that are recognized by gut-derived T cells in celiac disease. Nat. Med., 4, 713-717.
3. Bevan, S., Popat, S., Braegger, C.P., Busch, A., O'Donoghue, D., Falth-Magnusson, K., Ferguson, A., Godkin, A., Hogberg, L., Holmes, G. et al. (1999) Contribution of the MHC region to the familial risk of coeliac disease. J. Med. Genet., 36, 687-690.
4. Petronzelli, F., Bonamico, M., Ferrante, P., Grillo, R., Mora, B., Mariani, P., Apollonio, I., Gemme, G. and Mazzilli, M.C. (1997) Genetic contribution of the HLA region to the familial clustering of coeliac disease. Ann. Hum. Genet., 61, 307-317.
5. van Heel, D.A., Franke, L., Hunt, K.A., Gwilliam, R., Zhernakova, A., Inouye, M., Wapenaar, M.C., Barnardo, M.C., Bethel, G., Holmes, G.K. et al. (2007) A genome-wide association study for celiac disease identifies risk variants in the region harboring IL2 and IL21. Nat. Genet., 39, 827-829.
6. Todd, J.A., Walker, N.M., Cooper, J.D., Smyth, D.J., Downes, K., Plagnol, V., Bailey, R., Nejentsev, S., Field, S.F., Payne, F. et al. (2007) Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes. Nat. Genet., 39, 857-864.
7. Zhernakova, A., Alizadeh, B.Z., Bevova, M., van Leeuwen, M.A., Coenen, M.J., Franke, B., Franke, L., Posthumus, M.D., van Heel, D.A., van der Steege, G. et al. (2007) Novel association in chromosome 4q27 region with rheumatoid arthritis and confirmation of type 1 diabetes point to a general risk locus for autoimmune diseases. Am. J. Hum. Genet., 81, 1284-1288.
8. Hunt, K.A., Zhernakova, A., Turner, G., Heap, G.A.R., Franke, L., Bruinenberg, M., Romanos, J., Dinesen, L.C., Ryan, A.W., Panesar, D. et al. (2008) Newly identified genetic risk variants for celiac disease related to the immune response. Nat. Genet., 40, 395-402.
9. Zhernakova, A., Festen, E.M., Franke, L., Trynka, G., van Diemen, C.C., Monsuur, A.J., Bevova, M., Nijmeijer, R.M., van 't Slot, R., Heijmans, R. et al. (2008) Genetic analysis of innate immunity in Crohn's disease and ulcerative colitis identifies two susceptibility loci harboring CARD9 and IL18RAP. Am. J. Hum. Genet., 82, 1202-1210.
10. Salvati, V.M., MacDonald, T.T., Bajaj-Elliott, M., Borrelli, M., Staiano, A., Auricchio, S., Troncone, R. and Monteleone, G. (2002) Interleukin 18 and associated markers of T helper cell type 1 activity in coeliac disease. Gut, 50, 186-190.
11. Leon, A.J., Garrote, J.A., Blanco-Quiros, A., Calvo, C., Fernandez-Salazar, L., Del Villar, A., Barrera, A. and Arranz, E. (2006) Interleukin 18 maintains a long-standing inflammation in coeliac disease patients. Clin. Exp. Immunol., 146, 479-485.
12. Lettesjo, H., Hansson, T., Bergqvist, A., Gronlund, J. and Dannaeus, A. (2005) Enhanced interleukin-18 levels in the peripheral blood of children with coeliac disease. Clin. Exp. Immunol., 139, 138-143.
13. Born, T.L., Thomassen, E., Bird, T.A. and Sims, J.E. (1998) Cloning of a novel receptor subunit, AcPL, required for interleukin-18 signaling. J. Biol. Chem., 273, 29445-29450.
14. Torigoe, K., Ushio, S., Okura, T., Kobayashi, S., Taniai, M., Kunikata, T., Murakami, T., Sanou, O., Kojima, H., Fujii, M. et al. (1997) Purification and characterization of the human interleukin-18 receptor. J. Biol. Chem., 272, 25737-25742.
15. Cheung, H., Chen, N.J., Cao, Z., Ono, N., Ohashi, P.S. and Yeh, W.C. (2005) Accessory protein-like is essential for IL-18-mediated signaling. J. Immunol., 174, 5351-5357.
16. Sareneva, T., Julkunen, I. and Matikainen, S. (2000) IFN-alpha and IL-12 induce IL-18 receptor gene expression in human NK and T cells. J. Immunol., 165, 1933-1938.
17. Romanos, J., Barisani, D., Trynka, G., Zhernakova, A., Bardella, M.T. and Wijmenga, C. (2008) Six new celiac disease loci replicated in an Italian population confirm association to celiac disease. J. Med. Genet., 2008. [Epub ahead of print].
18. Fiszer, D., Rozwadowska, N., Rychlewski, L., Kosicki, W. and Kurpisz, M. (2007) Identification of IL-18RAP mRNA truncated splice variants in human testis and the other human tissues. Cytokine, 39, 178-183.
19. Andre, R., Wheeler, R.D., Collins, P.D., Luheshi, G.N., Pickering-Brown, S., Kimber, I., Rothwell, N.J. and Pinteaux, E. (2003) Identification of a truncated IL-18R beta mRNA: A putative regulator of IL-18 expressed in rat brain. J. Neuroimmunol., 145, 40-45.
20. Dardalhon, V., Korn, T., Kuchroo, V.K. and Anderson, A.C. (2008) Role of Th1 and Th17 cells in organ-specific autoimmunity. J. Autoimmun., 31, 252-253.
21. Mustalahti, K., Sulkanen, S., Holopainen, P., Laurila, K., Collin, P., Partanen, J. and Maki, M. (2002) Coeliac disease among healthy members of multiple case coeliac disease families. Scand. J. Gastroenterol. 37, 161-165.
22. Koskinen, L.L.E., Korponay-Szabo, I.R., Viiri, K., Juuti-Uusitalo, K., Kaukinen, K., Lindfors, K., Mustalahti, K., Kurppa, K., Adany, R., Pocsai, Z. et al. (2008) Myosin IXB gene region and gluten intolerance: Linkage to coeliac disease and a putative dermatitis herpetiformis association. J. Med. Genet., 45, 222-227.
23. Aromaa, A. and Koskinen, S. (2003) Health and Functional Capacity in Finland. Baseline Results of the Health 2000 Health Examination Survey Publications of the National Public Health Institute, Helsinki, Finland.
24. Central Statistical Office. (2001) Demographic Yearbook of Hungary Central Statistical Office, Budapest, Hungary.
25. Szeles, G., Voko, Z., Jenei, T., Kardos, L., Pocsai, Z., Bajtay, A., Papp, E., Pasti, G., Kosa, Z., Molnar, I. et al. (2005) A preliminary evaluation of a health monitoring programme in Hungary. Eur. J. Public Health, 15, 26-32.
26. Report of working group of European society of paediatric gastroenterology and nutrition (1990) Revised criteria for diagnosis of coeliac disease. Arch. Dis. Child., 65, 909-911.
27. Oberhuber, G., Granditsch, G. and Vogelsang, H. (1999) The histopathology of coeliac disease: Time for a standardized report scheme for pathologists. Eur. J. Gastroenterol. Hepatol., 11, 1185-1194.
28. Barrett, J.C., Fry, B., Maller, J. and Daly, M.J. (2005) Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 21, 263-265.
29. Nicodemus, K.K. (2008) Catmap: Case-control and TDT meta-analysis package. BMC Bioinformatics, 9, 130.
30. Abecasis, G.R., Cherny, S.S., Cookson, W.O. and Cardon, L.R. (2002) Merlin-rapid analysis of dense genetic maps using sparse gene flow trees. Nat. Genet., 30, 97-101.
31. Purcell, S., Cherny, S.S. and Sham, P.C. (2003) Genetic power calculator: Design of linkage and association genetic mapping studies of complex traits. Bioinformatics, 19, 149-150.